Mutagenetix > Incidental Mutation

Incidental Mutation 'R4343:Gm5878'

324222

Institutional Source

Beutler Lab

Gene Symbol

Gm5878

Ensembl Gene

ENSMUSG00000072952

Gene Name

predicted gene 5878

Synonyms

MMRRC Submission

041665-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R4343 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85088397-85103076 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 85102633 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 31 (R31*)

Ref Sequence

ENSEMBL: ENSMUSP00000109433 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113802] [ENSMUST00000204757]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000113802
AA Change: R31*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203386

Predicted Effect

probably benign
Transcript: ENSMUST00000204757

SMART Domains

Protein: ENSMUSP00000145412
Gene: ENSMUSG00000033735

Domain	Start	End	E-Value	Type
Pfam:adh_short	9	215	5.3e-28	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cd38	A	C	5: 44,026,431 (GRCm39)	I72L	probably benign	Het
Diras1	T	A	10: 80,858,018 (GRCm39)	K78*	probably null	Het
Gm8674	T	A	13: 50,053,742 (GRCm39)		noncoding transcript	Het
Gnal	T	C	18: 67,268,659 (GRCm39)	S182P	probably benign	Het
Grik1	T	C	16: 87,693,140 (GRCm39)	T932A	probably benign	Het
Igf2r	C	T	17: 12,928,398 (GRCm39)	E982K	possibly damaging	Het
Lepr	G	A	4: 101,622,349 (GRCm39)		probably null	Het
Mical3	C	A	6: 120,911,799 (GRCm39)	E1083*	probably null	Het
Mki67	A	G	7: 135,296,847 (GRCm39)	V2729A	probably benign	Het
Mmp20	GA	GAA	9: 7,628,346 (GRCm39)		probably null	Het
Myo7b	A	G	18: 32,116,680 (GRCm39)	F976L	probably damaging	Het
Nfasc	A	G	1: 132,559,443 (GRCm39)	F229S	probably damaging	Het
Npc1l1	G	A	11: 6,167,773 (GRCm39)	T1006I	probably benign	Het
Or5g9	T	A	2: 85,552,592 (GRCm39)	V281E	probably damaging	Het
Plekha5	A	G	6: 140,501,780 (GRCm39)	E656G	probably damaging	Het
Prep	C	A	10: 44,996,866 (GRCm39)	S381R	probably damaging	Het
Rab31	C	T	17: 65,961,414 (GRCm39)	R192H	probably benign	Het
Rbm5	T	C	9: 107,629,395 (GRCm39)	D319G	probably damaging	Het
Rexo2	T	C	9: 48,380,148 (GRCm39)	E228G	possibly damaging	Het
Rrn3	A	G	16: 13,601,986 (GRCm39)	D80G	probably benign	Het
Slc38a3	A	G	9: 107,533,671 (GRCm39)	V224A	possibly damaging	Het
Slc66a2	A	G	18: 80,327,004 (GRCm39)		probably benign	Het
Sycp2	T	C	2: 178,022,740 (GRCm39)	T464A	probably damaging	Het
Tpcn1	A	T	5: 120,698,285 (GRCm39)	L79H	probably damaging	Het
Trim30a	T	C	7: 104,084,799 (GRCm39)	Q137R	probably benign	Het
Tyrp1	A	G	4: 80,768,078 (GRCm39)	D92G	possibly damaging	Het
Ugt1a6a	T	C	1: 88,066,248 (GRCm39)	L18P	probably damaging	Het
Ugt2b5	A	T	5: 87,287,582 (GRCm39)	V195E	probably damaging	Het
Zmym2	T	A	14: 57,159,019 (GRCm39)	M598K	probably damaging	Het

Other mutations in Gm5878

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02728:Gm5878	APN	6	85,095,574 (GRCm39)	missense	probably benign
R2426:Gm5878	UTSW	6	85,095,613 (GRCm39)	missense	probably benign	0.04
R4342:Gm5878	UTSW	6	85,102,633 (GRCm39)	nonsense	probably null
R4344:Gm5878	UTSW	6	85,102,633 (GRCm39)	nonsense	probably null
R4345:Gm5878	UTSW	6	85,102,633 (GRCm39)	nonsense	probably null
R7583:Gm5878	UTSW	6	85,095,682 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- GGCAGACCAAAGGCTAATCG -3'
(R):5'- TGGCGCTCAACTAACTCAC -3'

Sequencing Primer
(F):5'- GCTAATCGCCTGGGAACAATG -3'
(R):5'- TAACTCACCCCAGTGCGG -3'

Posted On

2015-06-24